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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RRM1

Variant:p.P114S

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RRM1

NM_001033.5:p.P114S

hg38:chr11:4107488 C>T

Associated Papers

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.

Bain JM et al.

Neurology. Genetics, 2021

33728377 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."